NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Dec 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000314245.32
Allele description [Variation Report for NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)]
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 13, 2024